Yale receives $15M grant for five-year study on autism in girls

NEW HAVEN -- In a major step for autism research, the Yale School of Medicine is embarking on a five-year, $15 million push to develop new diagnostic tools and treatment protocols for autism in girls.

It's part of an overall $100 autism research project announced recently by the National Institutes for Health. Preliminary work already has begun, and Yale researchers expect to start working with patients by December.

"This is a game changer," said Kevin Pelphrey of the Yale Child Study Center, who is director of the Yale Autism Center for Excellence and principal investigator for the project. "It's a crucial time. If we can put all this research together, I think we're going to do something fantastic. I'll be upset if we don't have some kind of treatment to offer."

Autism, a disorder that can impair socialization, communication, learning and behavior, affects one in 88 children in the U.S. It is diagnosed more often today than in previous generations, Pelphrey explained, owing to more standardized diagnostic methods and a greater awareness of autism by physicians.

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"It's not a true increase in the number of kids having autism," Pelphrey said. "We're much better at picking it up now."

Yale's work will focus on how autism affects girls. Roughly one in 250 girls in the U.S. develops autism, compared with one in 50 boys.

Due in part to the disparity in numbers, relatively little is known about autism in girls. Yet a small, but growing body of research seems to indicate that autism in girls is distinct both genetically and in terms of behavior.

For one thing, girls' superior socialization skills appear to mask the effects of milder forms of autism, Pelphrey explained. This means girls often aren't diagnosed with autism unless they have a more severe case.

"It could be that a new diagnostic tool is needed for girls, based more on biology than on clinical observation," Pelphrey said. "When girls are diagnosed with autism now, it's much more devastating, both in their brain and what's going on in their environment. My hunch is more girls are actually affected by autism in a more subtle way, but they aren't diagnosed."

Yale is collaborating with UCLA, Harvard and the University of Washington on the research. Pelphrey hopes to conduct interviews, do brain scans and get blood samples from 650 autistic girls around the country. He also wants to get similar information from 650 autistic boys, plus data on the parents and siblings of all participants.

In addition, Pelphrey's team will have access to a database of more than 2,500 families compiled by the Simons Foundation.

"Very quickly, we'll gain some insight on clinical and behavioral differences," said James McPartland, an assistant professor and licensed clinical psychologist at Yale. "We'll understand more about how it's different to parent a girl with autism. We're trying to learn as much as we can."

From there, researchers hope to come up with new treatments on a variety of fronts: medications, gene therapy and behavioral therapy. Such options also might be tailored to individual cases.

"I envision using a combination of treatments based on knowing something about a child's genetic makeup, in order to know what kind of medicine and therapy will work best," said Pelphrey, who has an autistic daughter. "A huge goal here is whether we can boil this all down into something you could have in a pediatrician's office in Georgia."

A trio of Yale laboratories will work on the effort, led by Pelphrey, McPartland and Matthew State.

Yale is actively seeking families who are dealing with autism to take part in the project. Those interested may call Erin MacDonnell at 203-737-3439 or email erin.macdonnell@yale.edu.